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Article

Glycine receptor mouse mutants: model systems for human hyperekplexia.

British journal of pharmacology - 1 Nov 2013

Schaefer Natascha, Langlhofer Georg, Kluck Christoph J, Villmann Carmen

Abstract excerpt

Human hyperekplexia is a neuromotor disorder caused by disturbances in inhibitory glycine-mediated neurotransmission. Mutations in genes encoding for glycine receptor subunits or associated proteins, such as GLRA1, GLRB, GPHN and ARHGEF9, have been detected in patients suffering from hyperekplexia. Classical symptoms are exaggerated startle attacks upon unexpected acoustic or tactile stimuli, massive tremor, loss...

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Source

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Identifiers

PMID: 23941355
DOI: 10.1111/bph.12335
PMCID: PMC3949644

Genes

ARHGEF9
GLRA1
GLRB
GPHN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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